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Summary
CONGENITAL DISORDER OF GLYCOSYLATION CDG-Ik
CDG1K ALG1-CDG
608540
OMIM = Online Medalian Inheritance of Men
79327
16p13.3
rare
autosomal recessive
mutation in the gene encoding beta-1,4-mannosyltransferase
symptoms
apnea
ascites
blindness, visual loss, visual impairment
cardiomyopathy
cerebral atrophy
diarrhea
dysmorphism
early death
epilepsy
hepatomegaly (large liver)
hydrops fetalis
hypotonia
microcephaly (<2 SD for age)
onset, fetus
onset, neonatal
seizures
splenomegaly (large spleen)
laboratory finding
Coagulopathy/Coagulation factors abnormalblood
beta-1,4-mannosyltransferase decreased activityfibroblasts
Transferrin abnormalserum
IEF of serum transferrin, type 1 pattern abnormalserum
Literature
Griffith OWet al.Excretion of cysteine and gamma-glutamylcysteine moieties in human and experimental animal gamma-glutamyl transpeptidase deficiencyProc Natl Acad Sci U S A7763384-33871980
Citron BAet al.Mutation in the 4a-carbinolamine dehydratase gene leads to mild hyperphenylalaninemiaAm J Hum Genet530768-7641993
Blau NBarnes I, Dhondt JLInternational database of tetrahydrobiopterin deficienciesJ Inherit Metab Dis1908-141996
Pastore Aet al.Fully automated assay for total homocysteine, cysteine, cysteinylglycine, glutathione, cysteamine, and 2-mercaptopropionylglycine in plasma and urineClin Chem444825-8321998
Thony BHeizmann CW, Mattei MGChromosomal location of two human genes encoding tetrahydrobiopterin-metabolizing enzymes: 6-pyruvoyl-tetrahydropterin synthase maps to 11q22.3-q23.3, and pterin-4-alpha-carbinolamine dehydratase maps to 10q22Genomics192365-3681994